Variant report

Variant	esv2757516
Chromosome Location	chr12:119229694-119294323
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:501)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr12:119288183-119288243	GM12878	blood:	n/a	n/a
2	CEBPB	chr12:119290228-119290388	K562	blood:	n/a	chr12:119290256-119290269 chr12:119290258-119290269 chr12:119290256-119290267
3	CEBPB	chr12:119278262-119278518	K562	blood:	n/a	n/a
4	CEBPB	chr12:119278130-119278610	MCF-7	breast:	n/a	n/a
5	CEBPB	chr12:119252207-119252447	A549	lung:	n/a	chr12:119252317-119252328
6	CEBPB	chr12:119252161-119252474	HepG2	liver:	n/a	chr12:119252317-119252328
7	CEBPB	chr12:119278222-119278540	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr12:119260239-119260313	HepG2	liver:	n/a	n/a
9	CEBPB	chr12:119290150-119290605	HepG2	liver:	n/a	chr12:119290256-119290269 chr12:119290258-119290269 chr12:119290256-119290267
10	CEBPB	chr12:119290181-119290418	A549	lung:	n/a	chr12:119290256-119290269 chr12:119290258-119290269 chr12:119290256-119290267
11	CEBPD	chr12:119251820-119252065	K562	blood:	n/a	n/a
12	CEBPD	chr12:119251765-119252208	K562	blood:	n/a	n/a
13	CTCF	chr12:119291580-119291730	GM12867	blood:	n/a	n/a
14	CTCF	chr12:119288160-119288310	HMF	breast:	n/a	n/a
15	CTCF	chr12:119278152-119278553	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr12:119278266-119278547	MCF-7	breast:	n/a	n/a
17	CTCF	chr12:119278340-119278490	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr12:119288140-119288290	GM12864	blood:	n/a	n/a
19	CTCF	chr12:119259468-119259577	K562	blood:	n/a	n/a
20	CTCF	chr12:119291524-119291749	GM12892	blood:	n/a	n/a
21	CTCF	chr12:119291544-119291729	GM19240	blood:	n/a	n/a
22	CTCF	chr12:119278280-119278430	HepG2	liver:	n/a	n/a
23	CTCF	chr12:119278380-119278478	GM20000	blood:	n/a	n/a
24	CTCF	chr12:119278320-119278470	GM12865	blood:	n/a	n/a
25	CTCF	chr12:119278340-119278490	GM12871	blood:	n/a	n/a
26	CTCF	chr12:119259520-119259670	MCF-7	breast:	n/a	n/a
27	CTCF	chr12:119288140-119288290	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr12:119259478-119259599	MCF-7	breast:	n/a	n/a
29	CTCF	chr12:119287866-119287953	K562	blood:	n/a	n/a
30	CTCF	chr12:119246856-119246905	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr12:119288112-119288390	GM12892	blood:	n/a	n/a
32	CTCF	chr12:119291470-119291754	MCF-7	breast:	n/a	n/a
33	CTCF	chr12:119288140-119288290	HPF	lung:	n/a	n/a
34	CTCF	chr12:119278216-119278519	K562	blood:	n/a	n/a
35	CTCF	chr12:119259540-119259690	GM12873	blood:	n/a	n/a
36	CTCF	chr12:119291560-119291710	GM12875	blood:	n/a	n/a
37	CTCF	chr12:119291540-119291690	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr12:119291600-119291750	GM12865	blood:	n/a	n/a
39	CTCF	chr12:119278298-119278511	LNCaP	prostate:	n/a	n/a
40	CTCF	chr12:119259426-119259651	HepG2	liver:	n/a	n/a
41	CTCF	chr12:119288077-119288400	K562	blood:	n/a	n/a
42	CTCF	chr12:119278366-119278413	A549	lung:	n/a	n/a
43	CTCF	chr12:119265703-119265808	K562	blood:	n/a	n/a
44	CTCF	chr12:119291573-119291696	GM19239	blood:	n/a	n/a
45	CTCF	chr12:119291547-119291728	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr12:119278337-119278445	GM19240	blood:	n/a	n/a
47	CTCF	chr12:119259440-119259590	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr12:119291606-119291639	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr12:119278307-119278449	GM19238	blood:	n/a	n/a
50	CTCF	chr12:119288140-119288290	AG04449	skin:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:119277859..119279542-chr12:119284779..119287652,2	K562	blood:
2	chr12:119117331..119119543-chr12:119272928..119275663,2	K562	blood:
3	chr12:119282491..119284447-chr12:119286794..119288862,2	K562	blood:
4	chr12:119282491..119284447-chr12:119286794..119288862,2	K562	blood:
5	chr12:119277859..119279542-chr12:119284779..119287652,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAOK3-5	chr12:119270767-119270848	ENSG00000255814
2	lnc-TAOK3-5	chr12:119271192-119271341	ENSG00000255814
3	lnc-TAOK3-5	chr12:119256609-119256826	ENSG00000255814
4	lnc-TAOK3-6	chr12:119287159-119287281	ENSG00000256149

No data

Variant related genes	Relation type
RNA5SP374	TF binding region
ENSG00000255814	TF binding region

Extended variants
information (count: 1049 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1049 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144537667	chr12:119235404-119235405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139266866	chr12:119235445-119235446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181303480	chr12:119235520-119235521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547273827	chr12:119235521-119235522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371136823	chr12:119235577-119235578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144100357	chr12:119235584-119235585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536086952	chr12:119235629-119235630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555029509	chr12:119235729-119235730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575025448	chr12:119235734-119235735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537571954	chr12:119235736-119235737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557297731	chr12:119235746-119235747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577576341	chr12:119235804-119235805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540111049	chr12:119235805-119235806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185042707	chr12:119235868-119235869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377613688	chr12:119235881-119235882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113576108	chr12:119235895-119235896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542868154	chr12:119235922-119235923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189535800	chr12:119235946-119235947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530991047	chr12:119236022-119236023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551103117	chr12:119236024-119236025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2201975	chr12:119236049-119236050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533409905	chr12:119236067-119236068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371819918	chr12:119236173-119236174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546967825	chr12:119236206-119236207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112882327	chr12:119236239-119236240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143154553	chr12:119236267-119236268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528522268	chr12:119236311-119236312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569124796	chr12:119236324-119236325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543196030	chr12:119236339-119236340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113138157	chr12:119236375-119236376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182233569	chr12:119236389-119236390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79346048	chr12:119236450-119236451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533827831	chr12:119236462-119236463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151152272	chr12:119236463-119236464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113465859	chr12:119236468-119236469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7309737	chr12:119236486-119236487	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556351295	chr12:119236552-119236553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150263982	chr12:119236604-119236605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544714068	chr12:119236634-119236635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188645032	chr12:119236657-119236658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533157043	chr12:119236678-119236679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541361524	chr12:119236732-119236733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540650272	chr12:119236746-119236747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35849127	chr12:119236747-119236748	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529511277	chr12:119236763-119236764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369886849	chr12:119236779-119236780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192389529	chr12:119236796-119236797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138952870	chr12:119236797-119236798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551180606	chr12:119236836-119236837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571357002	chr12:119236908-119236909	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119235400-119236600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:119236400-119237400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:119236600-119237000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr12:119236600-119237200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:119236600-119237400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:119236600-119237400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:119236800-119237400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:119250800-119251200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:119250800-119252200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:119250800-119252800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:119251000-119251400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:119251000-119251600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:119251000-119251800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:119251200-119251600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr12:119251200-119252000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:119251400-119251600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:119251400-119252000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:119251400-119252000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:119251400-119252000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:119251400-119252200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:119251400-119252800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:119251600-119251800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:119251600-119252000	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr12:119251600-119252000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr12:119251600-119252200	Enhancers	K562	blood
26	chr12:119251800-119252000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr12:119252000-119252600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr12:119252000-119252600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:119252000-119253200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr12:119252200-119255000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:119254600-119255000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:119255000-119255200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr12:119255400-119255600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:119255400-119255600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:119257800-119259800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:119258600-119259800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:119259800-119265000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:119264600-119264800	Enhancers	Brain Hippocampus Middle	brain
39	chr12:119264600-119265600	Enhancers	Brain Substantia Nigra	brain
40	chr12:119264600-119265800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr12:119264800-119265000	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr12:119264800-119265400	Enhancers	Brain Anterior Caudate	brain
43	chr12:119264800-119265800	Enhancers	Brain Angular Gyrus	brain
44	chr12:119264800-119265800	Enhancers	Brain Cingulate Gyrus	brain
45	chr12:119265000-119265200	Active TSS	Brain Hippocampus Middle	brain
46	chr12:119265000-119265400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:119265200-119265400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr12:119265400-119265600	Active TSS	Brain Hippocampus Middle	brain
49	chr12:119265400-119266000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr12:119265400-119266200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links